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Galactokinase deficiency

MONDO:0009255

Galactokinase deficiency is a rare mild form of galactosemia characterized by early onset of cataract and an absence of the usual signs of classic galactosemia, i.e. feeding difficulties, poor weight gain and growth, lethargy, and jaundice.

Also known as: GALK deficiency, GALK-D, galactokinase deficiency, galactokinase deficiency galactosemia, galactokinase deficiency with cataracts, galactosemia type 2, Galk deficiency, galactosemia 2

1 clinical trial for this condition and its sub-types, 1 tagged with Galactokinase deficiency itself.

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